IFAP syndrome (sequence analysis of MBTPS2 gene)
MBTPS2
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Methodology
Sanger sequencing
Specimen Requirements
Descriptive |
Volume / Concentration 1 |
Container |
Transport temperature |
Sample viability (days) 2 |
---|---|---|---|---|
DNA | ≥ 100 µL [50 ng/µL] | Eppendorf Safe-lock | Room temp. | n/a |
Peripheral blood | ≥ 3 mL | EDTA | Room temp. | 5 |
1
When it is not possible to collect the minimum volume for the test, please contact CGC Genetics
2
Maximum shipping time to ensure sample quality
Turnaround Time (Days)
- 60
CPT Codes
- 81479
Specialties
- Dermatology, Rare diseases, Ophthalmology, Pediatrics
CGC Reference
- 1255
Associated Tests
Hereditary ichthyosis (WES based NGS panel of 57 genes, including CNV analysis)
Ectodermal dysplasia (WES based NGS panel of 42 genes, including CNV analysis)